Associated Papers
OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome.
Wang Y et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin.
Koh YI et al.
Autophagy, 2022
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
OSBPL2-disrupted pigs recapitulate dual features of human hearing loss and hypercholesterolaemia.
Yao J et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2019
A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.
Wu N et al.
Bmc Medical Genetics, 2019
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
Thoenes M et al.
Orphanet Journal of Rare Diseases, 2015
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